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    NLRP7 NLR family pyrin domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 199713, updated on 28-Oct-2024

    Summary

    Official Symbol
    NLRP7provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:22947
    See related
    Ensembl:ENSG00000167634 MIM:609661; AllianceGenome:HGNC:22947
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4
    Summary
    This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 2.5), lung (RPKM 0.4) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLRP7 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54923515..54966243, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58017788..58060691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55434883..55477611, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3560 silencer Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15416 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404005-55404755 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404756-55405506 Neighboring gene Fc alpha receptor Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55450505-55451214 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:55461990-55462680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55463371-55464060 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55523225-55523784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 Neighboring gene glycoprotein VI platelet

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hydatidiform mole, recurrent, 1
    MedGen: C3463897 OMIM: 231090 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ94610, MGC126470, MGC126471

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables aspartic-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables caspase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables interleukin-1 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 7
    Names
    NACHT, LRR and PYD containing protein 7
    NACHT, leucine rich repeat and PYD containing 7
    PYRIN-containing Apaf1-like protein 3
    nucleotide-binding oligomerization domain protein 12
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008056.2 RefSeqGene

      Range
      23739..47735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127255.2NP_001120727.1  NACHT, LRR and PYD domains-containing protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001120727.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC011476
      Consensus CDS
      CCDS46183.1
      UniProtKB/TrEMBL
      B4DYY2
      Related
      ENSP00000468706.1, ENST00000592784.6
      Conserved Domains (5) summary
      COG1100
      Location:172256
      Gem1; GTPase SAR1 family domain [General function prediction only]
      cd00116
      Location:730997
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:791814
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:172340
      NACHT; NACHT domain
    2. NM_001405531.1NP_001392460.1  NACHT, LRR and PYD domains-containing protein 7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC011476
      Related
      ENSP00000467123.1, ENST00000588756.5
    3. NM_139176.4NP_631915.2  NACHT, LRR and PYD domains-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_631915.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3, resulting in a shorter protein (isoform 1), compared to isoform 3.
      Source sequence(s)
      AC011476
      Consensus CDS
      CCDS12912.1
      UniProtKB/TrEMBL
      A0A0G2JPH3
      Related
      ENSP00000329568.5, ENST00000328092.9
      Conserved Domains (5) summary
      COG1100
      Location:172256
      Gem1; GTPase SAR1 family domain [General function prediction only]
      cd00116
      Location:702969
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:763786
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:172340
      NACHT; NACHT domain
    4. NM_206828.4NP_996611.2  NACHT, LRR and PYD domains-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_996611.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.
      Source sequence(s)
      AC011476
      Consensus CDS
      CCDS33109.1
      UniProtKB/Swiss-Prot
      E9PE16, Q32MH8, Q7RTR1, Q8WX94
      UniProtKB/TrEMBL
      A0A0G2JMB6
      Related
      ENSP00000339491.2, ENST00000340844.6
      Conserved Domains (5) summary
      COG1100
      Location:172256
      Gem1; GTPase SAR1 family domain [General function prediction only]
      cd00116
      Location:751940
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:791814
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:172340
      NACHT; NACHT domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54923515..54966243 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438386.1XP_047294342.1  NACHT, LRR and PYD domains-containing protein 7 isoform X1

      UniProtKB/TrEMBL
      K7ERG0
      Related
      ENSP00000468243.1, ENST00000586379.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      826907..869641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329669.1XP_054185644.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054329667.1XP_054185642.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054329670.1XP_054185645.1  NACHT, LRR and PYD domains-containing protein 7 isoform X3

    4. XM_054329666.1XP_054185641.1  NACHT, LRR and PYD domains-containing protein 7 isoform X2

    5. XM_054329668.1XP_054185643.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054329671.1XP_054185646.1  NACHT, LRR and PYD domains-containing protein 7 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      568712..611445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330148.1XP_054186123.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054330146.1XP_054186121.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054330149.1XP_054186124.1  NACHT, LRR and PYD domains-containing protein 7 isoform X7

    4. XM_054330145.1XP_054186120.1  NACHT, LRR and PYD domains-containing protein 7 isoform X6

    5. XM_054330147.1XP_054186122.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054330150.1XP_054186125.1  NACHT, LRR and PYD domains-containing protein 7 isoform X8

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      903495..946229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330461.1XP_054186436.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054330459.1XP_054186434.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054330462.1XP_054186437.1  NACHT, LRR and PYD domains-containing protein 7 isoform X10

    4. XM_054330458.1XP_054186433.1  NACHT, LRR and PYD domains-containing protein 7 isoform X9

    5. XM_054330460.1XP_054186435.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054330463.1XP_054186438.1  NACHT, LRR and PYD domains-containing protein 7 isoform X11

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      931032..973766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330714.1XP_054186689.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054330712.1XP_054186687.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054330715.1XP_054186690.1  NACHT, LRR and PYD domains-containing protein 7 isoform X13

    4. XM_054330711.1XP_054186686.1  NACHT, LRR and PYD domains-containing protein 7 isoform X12

    5. XM_054330713.1XP_054186688.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054330716.1XP_054186691.1  NACHT, LRR and PYD domains-containing protein 7 isoform X14

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      905581..948315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330945.1XP_054186920.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054330943.1XP_054186918.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054330946.1XP_054186921.1  NACHT, LRR and PYD domains-containing protein 7 isoform X16

    4. XM_054330942.1XP_054186917.1  NACHT, LRR and PYD domains-containing protein 7 isoform X15

    5. XM_054330944.1XP_054186919.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054330947.1XP_054186922.1  NACHT, LRR and PYD domains-containing protein 7 isoform X17

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      841874..884608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331223.1XP_054187198.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054331221.1XP_054187196.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054331224.1XP_054187199.1  NACHT, LRR and PYD domains-containing protein 7 isoform X19

    4. XM_054331220.1XP_054187195.1  NACHT, LRR and PYD domains-containing protein 7 isoform X18

    5. XM_054331222.1XP_054187197.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054331225.1XP_054187200.1  NACHT, LRR and PYD domains-containing protein 7 isoform X20

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      827859..868985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331493.1XP_054187468.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A0G2JNK3
    2. XM_054331495.1XP_054187470.1  NACHT, LRR and PYD domains-containing protein 7 isoform X21

    3. XM_054331492.1XP_054187467.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A0G2JNK3
    4. XM_054331494.1XP_054187469.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A0G2JNK3
    5. XM_054331496.1XP_054187471.1  NACHT, LRR and PYD domains-containing protein 7 isoform X22

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      635670..678404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333534.1XP_054189509.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054333532.1XP_054189507.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054333535.1XP_054189510.1  NACHT, LRR and PYD domains-containing protein 7 isoform X24

    4. XM_054333531.1XP_054189506.1  NACHT, LRR and PYD domains-containing protein 7 isoform X23

    5. XM_054333533.1XP_054189508.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054333536.1XP_054189511.1  NACHT, LRR and PYD domains-containing protein 7 isoform X25

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      905991..948725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333632.1XP_054189607.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054333630.1XP_054189605.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054333633.1XP_054189608.1  NACHT, LRR and PYD domains-containing protein 7 isoform X27

    4. XM_054333629.1XP_054189604.1  NACHT, LRR and PYD domains-containing protein 7 isoform X26

    5. XM_054333631.1XP_054189606.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054333634.1XP_054189609.1  NACHT, LRR and PYD domains-containing protein 7 isoform X28

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58017788..58060691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320156.1XP_054176131.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    2. XM_054320154.1XP_054176129.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    3. XM_054320157.1XP_054176132.1  NACHT, LRR and PYD domains-containing protein 7 isoform X30

    4. XM_054320153.1XP_054176128.1  NACHT, LRR and PYD domains-containing protein 7 isoform X29

    5. XM_054320155.1XP_054176130.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    6. XM_054320158.1XP_054176133.1  NACHT, LRR and PYD domains-containing protein 7 isoform X31